Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE The 677C > T mutation in 5,10-methylenetetrahydrofolate reductase and colorectal cancer risk. 10464674

1999

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE A common C to T transition (C677T) in the MTHFR gene is reported to reduce the risk for colorectal cancer and acute lymphocytic leukemia in homozygotes (TTs). 11408344

2001

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE This population-based case-control study was designed to investigate the interrelationships between polymorphisms in the methylenetetrahydrofolate (MTHFR C677T and A1298C) gene and other genes (MTR A2756G; MTRR A66G and CBS 844ins68), intake of B-vitamins and colorectal cancer risk (CRC). 12020105

2002

dbSNP: rs397507444
rs397507444
0.100 GeneticVariation BEFREE This population-based case-control study was designed to investigate the interrelationships between polymorphisms in the methylenetetrahydrofolate (MTHFR C677T and A1298C) gene and other genes (MTR A2756G; MTRR A66G and CBS 844ins68), intake of B-vitamins and colorectal cancer risk (CRC). 12020105

2002

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE We conclude that the MTHFR 1298A>C polymorphism is a less substantial independent risk factor for colorectal cancer compared to the 677C>T polymorphism. 12042673

2002

dbSNP: rs397507444
rs397507444
0.100 GeneticVariation BEFREE We conclude that the MTHFR 1298A>C polymorphism is a less substantial independent risk factor for colorectal cancer compared to the 677C>T polymorphism. 12042673

2002

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Females who were heterozygous or homozygous for the C677T MTHFR polymorphism were at increased risk of developing CIMP+ CRC (odds ratio 2.17, 95% confidence interval 1.03-4.57; p=0.037). 12427779

2002

dbSNP: rs397507444
rs397507444
0.100 GeneticVariation BEFREE Whereas our results do not support an association of high enzyme activity and increased risk of colorectal cancer in general, we can not exclude an association of patients with hereditary disease and the MTHFR 1298A --> C variant. 12618331

2003

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Different polymorphisms have been described for this enzyme, the most studied being the C677T, which has been shown to be associated with predisposition to colorectal cancer in patients who consume a high alcohol diet. 15033905

2004

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE This study investigated the relation of MTHFR C677T and A1298C polymorphisms to colorectal cancer in a case-control study in Fukuoka, Japan. 15546509

2004

dbSNP: rs397507444
rs397507444
0.100 GeneticVariation BEFREE While the A1298C polymorphism showed no measurable association with the overall risk of colorectal cancer, the 1298CC genotype was associated with a statistically significant increase in the risk when alcohol consumption was high, and was also associated with an approximately 2-fold increase in the risk of each of proximal and distal colon cancer. 15546509

2004

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Colorectal cancer and the methylenetetrahydrofolate reductase 677C -> T and methionine synthase 2756A -> G polymorphisms: a study of 2,168 case-control pairs from the JANUS cohort. 15598777

2004

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Meta analysis of these studies showed that GSTT1 deletion (pooled OR = 1.42), N-acetyltransferase 2 (NAT2)-rapid acetylator phenotype and genotye (pooled OR = 1.08) and NAT2-rapid acetylator phenotype (pooled OR = 1.15) had a significantly increased risk for colorectal cancer (P<0.05), other genotypes like GSTM1 deletion, GSTP1 1le105Val, NAT1*10, NAT2-rapid acetylator genotype CYP1A1 L1e462Val, CYP1A1 MspI*C, MTHFR C677T and MTR A2759G had no significant relationship with colorectal cancer (P>0.05). 15637738

2005

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Colo-rectal cancer risk is decreased in subjects homozygous for a common variant (C677T) of the gene coding for this enzyme, suggesting that DNA synthesis and repair may be 'enhanced' in these individuals. 15831129

2004

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE The MTHFR C677T polymorphism and colorectal cancer: the multiethnic cohort study. 15894672

2005

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Although the underlying mechanisms still remain to be clarified, epidemiological findings regarding MTHFR C677T polymorphism provide strong evidence that adequate folate status confers protection from colorectal cancer. 16128738

2005

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Functional variants in the methylenetetrahydrofolate reductase (MTHFR) gene, including the 677C>T and 1298A>C polymorphisms, have been associated with a moderately reduced risk of several cancers, including colorectal cancers. 16217917

2005

dbSNP: rs397507444
rs397507444
0.100 GeneticVariation BEFREE Functional variants in the methylenetetrahydrofolate reductase (MTHFR) gene, including the 677C>T and 1298A>C polymorphisms, have been associated with a moderately reduced risk of several cancers, including colorectal cancers. 16217917

2005

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE The aim of the study was to investigate the influence of methylenetetrahydrofolate reductase (MTHFR) gene expression levels and MTHFR polymorphism C677T on the outcome of patients with colorectal cancer (CRC). 16512993

2006

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE The aim of this study was to relate prediagnostic plasma folate and homocysteine concentrations and the methylenetetrahydrofolate reductase (MTHFR) 677C>T and 1298A>C polymorphisms to the risk of developing CRC. 16638790

2006

dbSNP: rs397507444
rs397507444
0.100 GeneticVariation BEFREE The aim of this study was to relate prediagnostic plasma folate and homocysteine concentrations and the methylenetetrahydrofolate reductase (MTHFR) 677C>T and 1298A>C polymorphisms to the risk of developing CRC. 16638790

2006

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Although the mechanism responsible for the link between the C677T polymorphism and microsatellite instability was not apparent, this finding may provide a clue towards a better understanding of the pathogenesis of microsatellite instability in human colorectal cancer. 16819711

2006

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Methylenetetrahydrofolate reductase C677T is not associated with expression of pyrimidine metabolic enzyme genes in colorectal cancer. 16866026

2007

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE MTHFR C677T polymorphism may not be important in an individual's susceptibility to gastric and colorectal cancer in Turkey and may not be a useful marker for identifying patients at high risk of developing gastric and colorectal cancer. 16927418

2007

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Consistent with the folate/methylation hypothesis, it was originally proposed that C677T may increase risk of CRC due to hypomethylation of oncogenes. 16933051

2006